AutismKB 2.0

Annotation Detail for RAB3GAP2


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Basic Information Top
Gene Symbol:RAB3GAP2 ( DKFZp434D245,FLJ14579,KIAA0839,RAB3-GAP150,RAB3GAP150,p150 )
Gene Full Name: RAB3 GTPase activating protein subunit 2 (non-catalytic)
Band: 1q41
Quick LinksEntrez ID:25782; OMIM: 609275; Uniprot ID:RBGPR_HUMAN; ENSEMBL ID: ENSG00000118873; HGNC ID: 17168
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200160Effects of Botulinum toxin
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of RAB3GAP2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of RAB3GAP2 mRNAaffects expression 17562736
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RAB3GAP2 mRNAdecreases expression 19150397
D016572 Cyclosporine Cyclosporine results in increased expression of RAB3GAP2 mRNAincreases expression 20106945
D007657 Ketone Bodies Ketone Bodies results in increased expression of RAB3GAP2 mRNAincreases expression 16807920
D014810 Vitamin E Vitamin E results in decreased expression of RAB3GAP2 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.3516050911
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.9416705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.943084413
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 12.376135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.3720889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.3712371664
MESH:D002779 Cholestasis Cyclosporine 3.1419486331
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.4418551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.9721346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9719420014 17906064 19164858 10915739 15968718 12705907 16393943 16177239 17562736 14986274 11529661 18071297 12153990 16081117 16485898 19085960 10663392 11287661 2444490 16781746 14550746 19416960 19370779 11739529 10774834 18713872 12392966 19739265 17522070 11461765 15619225 11743745 19923254 12958197 12594235 16227642 12540782 14725611 11421492 11834606 16109766
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:C538011 Eales disease Vitamin E 5.229068938
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1320426865
MESH:D005234 Fatty Liver Cyclosporine 3.1819224547
MESH:D005355 Fibrosis Cyclosporine 3.5612168785 12639820
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1316080930
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7916490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.4914716179
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D007251 Influenza, Human Vitamin E 4.7316624496
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Acetaminophen 10.9715629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.9710903974 8314463 18776723
MESH:D007674 Kidney Diseases Vitamin E 10.9712488133
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.1816705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1812371664
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9016169303
MESH:D008107 Liver Diseases Acetaminophen 1.6919784758 16611625 11587558 19014921 16610002 19460945 12587719 12969438
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.247678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.722876786 6135515 2876784
MESH:D008171 Lung Diseases Vitamin E 3.3716863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:C536028 Martsolf syndrome marker/mechanism
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.327678174 18551238
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7416049721
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2515084515
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7418551238
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D020521 Stroke Vitamin E 3.7716517955
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7810091137
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA142671105
    • No data
    Releated disease ID Related disease Name
    PA145007155Martsolf Syndrome
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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